Associated Papers
TP53 mutation heterogeneity reveals distinct prognoses in mantle cell lymphoma.
Liu S et al.
Annals of Hematology, 2026
Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.
Montellier E et al.
Ebiomedicine, 2026
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Fortuno C et al.
Genome Medicine, 2025
TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.
Fischer NW et al.
Nature Communications, 2025
Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.
Moses R et al.
Biorxiv : the Preprint Server for Biology, 2025
Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.
Vietri MT et al.
International Journal of Molecular Sciences, 2025
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
Funk JS et al.
Nature Genetics, 2025
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Hanna EM et al.
Plos One, 2025
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E et al.
Iscience, 2024
Dermatomyositis-like skin eruptions under hydroxyurea therapy conceal TP53-mutated atypical keratinocytes: A histopathologic and molecular pathologic case series.
Pruessmann W et al.
Journal of Cutaneous Pathology, 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.
Boruah N et al.
Biorxiv : the Preprint Server for Biology, 2024
Comparison of TP53 mutations in myelodysplasia and acute leukemia suggests divergent roles in initiation and progression.
Jambhekar A et al.
Blood Neoplasia, 2024
Loss-of-Function but Not Gain-of-Function Properties of Mutant TP53 Are Critical for the Proliferation, Survival, and Metastasis of a Broad Range of Cancer Cells.
Wang Z et al.
Cancer Discovery, 2024
The heterogeneous impact of targeted therapy on the prognosis of stage III/IV colorectal cancer patients with different subtypes of TP53 mutations.
Chen J et al.
Cancer Medicine, 2023
Evaluating the prognostic significance of p53 and TP53 mutations in HPV-negative hypopharyngeal carcinoma patients: a 5-year follow-up retrospective study.
Huang Q et al.
Bmc Cancer, 2023
Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.
Sasaki K et al.
Scientific Reports, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.
Ariste O et al.
Clinical Genetics, 2023
Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.
Perani A et al.
Frontiers in Oncology, 2023
Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.
Carrasco R et al.
Frontiers in Oncology, 2023
Fecal gene detection based on next generation sequencing for colorectal cancer diagnosis.
He SY et al.
World Journal of Gastroenterology, 2022
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
G V et al.
Frontiers in Genetics, 2022
Comprehensive Identification of Deleterious TP53 Missense VUS Variants Based on Their Impact on TP53 Structural Stability.
Tam B et al.
International Journal of Molecular Sciences, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.
Doffe F et al.
Cell Death and Differentiation, 2021
NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.
Zanti M et al.
Cancers, 2020
Functional Classification of TP53 Mutations in Acute Myeloid Leukemia.
Dutta S et al.
Cancers, 2020
Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.
Tam B et al.
Computational and Structural Biotechnology Journal, 2020
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA et al.
Cold Spring Harbor Molecular Case Studies, 2019
Clinical implications of subclonal TP53 mutations in acute myeloid leukemia.
Prochazka KT et al.
Haematologica, 2019
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
de Andrade KC et al.
Human Mutation, 2019
TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma.
Andrade RC et al.
Familial Cancer, 2018
TP53 Gene Status Affects Survival in Advanced Mycosis Fungoides.
Wooler G et al.
Frontiers in Medicine, 2016
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
Chen Z et al.
Plos One, 2008
Low-level expression of ETV6/TEL in patients with Myelodysplastic syndrome.
Yamagata T et al.
International Journal of Hematology, 2007
Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors.
Favis R et al.
Human Mutation, 2004